TYR and oculocutaneous albinism: Two TYR sequence variants [NM_000372.4:c.575 C > A; p.(Ser192Tyr) or S192Y and c.1205 G > A; p.(Arg402Gln) or R402Q], previously described as non-pathogenic polymorphisms due to their frequency in the general population (25 and 18% respectively), have been found to be enriched in cohorts of OCA patients with only one identified TYR pathogenic variant8,11,14–22, leading to suggestions that these variants may in fact account for some of this missing heritability8,9,14,15,18,23–27, although this has, however, been disputed by others17,19,28.